XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Oral-pharyngeal dysphagia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADCY612q13.12100%gene with protein product600294Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Generalized hypotonia; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Reduced tendon reflexes; Respiratory distress
ASAH18p2299.9%gene with protein product613468ASAHAreflexia; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cherry red spot of the macula; Decreased muscle mass; Degeneration of anterior horn cells; Dementia; Difficulty walking; EEG abnormality; EMG abnormality; Facial palsy; Failure to thrive; Frequent falls; Gait disturbance; Generalized myoclonic seizures; Gowers sign; Hepatomegaly; Hoarse cry; Intellectual disability; Irritability; Joint stiffness; Joint swelling; Juvenile onset; Kyphosis; Laryngomalacia; Lipogranulomatosis; Motor delay; Myoclonus; Neurological speech impairment; Nystagmus; Oral-pharyngeal dysphagia; Osteoporosis; Periarticular subcutaneous nodules; Progressive; Progressive distal muscular atrophy; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Short stature; Spinal muscular atrophy; Splenomegaly; Tongue fasciculations; Tremor; Variable expressivity
CNTNAP117q21.2100%gene with protein product602346NRXN4Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Fetal akinesia sequence; Generalized hypotonia; Knee flexion contracture; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Polyhydramnios; Reduced tendon reflexes; Respiratory distress
FLCN17p11.2100%gene with protein product607273Abnormal renal morphology; Abnormality of abdomen morphology; Abnormality of retinal pigmentation; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the pleura; Autism; Autosomal dominant inheritance; Broad forehead; Delayed myelination; Dental crowding; Dental malocclusion; Downslanted palpebral fissures; Dysphasia; Echolalia; EEG abnormality; Emphysema; Expressive language delay; Failure to thrive; Feeding difficulties in infancy; Fibrofolliculoma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; High palate; Hyperactivity; Hypermetropia; Hypertelorism; Hypocholesterolemia; Hypoplasia of the corpus callosum; Incomplete penetrance; Intellectual disability, mild; Language impairment; Mandibular prognathia; Microcephaly; Micrognathia; Multiple lipomas; Neoplasm of the stomach; Oral-pharyngeal dysphagia; Papule; Patent foramen ovale; Phenotypic variability; Pneumothorax; Poor eye contact; Prominent nasal tip; Pulmonary sequestration; Receptive language delay; Renal cell carcinoma; Renal cyst; Scoliosis; Seizures; Short stature; Skin tags; Sleep apnea; Small for gestational age; Smooth philtrum; Spontaneous pneumothorax; Sporadic; Stereotypy; Transitional cell carcinoma of the bladder; Triangular face; Trigonocephaly; Uterine leiomyosarcoma; Wide mouth
RAI117p11.299.96%gene with protein product607642SMCRAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal renal morphology; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome segregation; Abnormality of the dentition; Abnormality of the immune system; Abnormality of the larynx; Abnormality of the outer ear; Abnormality of the thyroid gland; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Broad face; Broad forehead; Broad palm; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysarthria; Dysphasia; Echolalia; EEG abnormality; Everted upper lip vermilion; Expressive language delay; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Head-banging; Hearing impairment; High hypermetropia; Hoarse voice; Hyperactivity; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Intellectual disability, mild; Large face; Malar flattening; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Morphological abnormality of the middle ear; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Oral-pharyngeal dysphagia; Pes planus; Poor fine motor coordination; Scoliosis; Seizures; Self-injurious behavior; Self-mutilation; Short nose; Short palm; Short philtrum; Short stature; Sleep apnea; Sleep disturbance; Speech apraxia; Sporadic; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Triangular face; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventriculomegaly; Wide nasal bridgeAutoimmune Disorders ; Ectodermal Dysplasia ; Obesity
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome